Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation
Thesis (M.Sc.)--Memorial University of Newfoundland, 2009. Medicine Includes bibliographical references (leaves 70-81) Bardet-Biedl Syndrome (BBS) is an autosomal recessive, genetically heterogenous, ciliopathic condition, characterized by dystrophic extremities, retinal dystrophy, obesity, renal ab...
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ftmemorialunivdc:oai:collections.mun.ca:theses4/144906 2023-05-15T17:23:34+02:00 Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation Webb, Michael P. K., 1979- Memorial University of Newfoundland. Faculty of Medicine 2009 x, 81 leaves : ill., maps Image/jpeg; Application/pdf http://collections.mun.ca/cdm/ref/collection/theses4/id/144906 Eng eng Electronic Theses and Dissertations (9.37 MB) -- http://collections.mun.ca/PDFs/theses/Webb_Michael.pdf a3217583 http://collections.mun.ca/cdm/ref/collection/theses4/id/144906 The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. Paper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries Kidneys--Diseases Laurence-Moon-Biedl syndrome--Genetic aspects Metabolism--Disorders Mutation (Biology) Kidney Diseases Laurence-Moon Syndrome--genetics Laurence-Moon Syndrome--metabolism Mutation Text Electronic thesis or dissertation 2009 ftmemorialunivdc 2015-08-06T19:22:36Z Thesis (M.Sc.)--Memorial University of Newfoundland, 2009. Medicine Includes bibliographical references (leaves 70-81) Bardet-Biedl Syndrome (BBS) is an autosomal recessive, genetically heterogenous, ciliopathic condition, characterized by dystrophic extremities, retinal dystrophy, obesity, renal abnormalities and male hypogonadism. It is possible that inheritance of a single BBS mutation may predispose to complex diseases such as obesity, hypertension and diabetes, particularly as these disorders occur frequently in BBS. To determine the incidence of metabolic and renal events 46 BBS cases, 96 heterozygote BBS mutation carriers, and 37 relatives without a BBS mutation were studied. Cases have been followed prospectively for up to 28 years, but relatives were assessed for the first time. -- The molecular basis of BBS was identified in all families in whom DNA was obtained: 9 mutations in 6 different BBS genes were discovered in 21 families. Body mass index in adult cases was 38 ± 12, in carriers 28 ± 6 and in non carriers 29 ± 3. Hypertension had developed in 72% of cases, in 54% of carriers and 49% of non carriers. Median time to onset of hypertension treatment was 34, 63 and 67 years respectively. Diabetes had developed in 50% of cases, 17% of carriers, and 24% of non carriers, with median time to diabetes being 43, 75 years and not achieved respectively. Stage 3 chronic kidney disease had developed in 47% of cases, 11% of carriers, 15% of non carriers, with median age to diagnosis being 58, 86 and 81 years respectively. -- Metabolic and renal events occurred frequently and at an early age in BBS. There were no significant differences in the risk of these events comparing carriers of a BBS mutation to non carriers. Inheritance of a BBS mutation does not predispose to obesity, diabetes, hypertension or renal impairment. Thesis Newfoundland studies University of Newfoundland Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
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Memorial University of Newfoundland: Digital Archives Initiative (DAI) |
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ftmemorialunivdc |
language |
English |
topic |
Kidneys--Diseases Laurence-Moon-Biedl syndrome--Genetic aspects Metabolism--Disorders Mutation (Biology) Kidney Diseases Laurence-Moon Syndrome--genetics Laurence-Moon Syndrome--metabolism Mutation |
spellingShingle |
Kidneys--Diseases Laurence-Moon-Biedl syndrome--Genetic aspects Metabolism--Disorders Mutation (Biology) Kidney Diseases Laurence-Moon Syndrome--genetics Laurence-Moon Syndrome--metabolism Mutation Webb, Michael P. K., 1979- Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation |
topic_facet |
Kidneys--Diseases Laurence-Moon-Biedl syndrome--Genetic aspects Metabolism--Disorders Mutation (Biology) Kidney Diseases Laurence-Moon Syndrome--genetics Laurence-Moon Syndrome--metabolism Mutation |
description |
Thesis (M.Sc.)--Memorial University of Newfoundland, 2009. Medicine Includes bibliographical references (leaves 70-81) Bardet-Biedl Syndrome (BBS) is an autosomal recessive, genetically heterogenous, ciliopathic condition, characterized by dystrophic extremities, retinal dystrophy, obesity, renal abnormalities and male hypogonadism. It is possible that inheritance of a single BBS mutation may predispose to complex diseases such as obesity, hypertension and diabetes, particularly as these disorders occur frequently in BBS. To determine the incidence of metabolic and renal events 46 BBS cases, 96 heterozygote BBS mutation carriers, and 37 relatives without a BBS mutation were studied. Cases have been followed prospectively for up to 28 years, but relatives were assessed for the first time. -- The molecular basis of BBS was identified in all families in whom DNA was obtained: 9 mutations in 6 different BBS genes were discovered in 21 families. Body mass index in adult cases was 38 ± 12, in carriers 28 ± 6 and in non carriers 29 ± 3. Hypertension had developed in 72% of cases, in 54% of carriers and 49% of non carriers. Median time to onset of hypertension treatment was 34, 63 and 67 years respectively. Diabetes had developed in 50% of cases, 17% of carriers, and 24% of non carriers, with median time to diabetes being 43, 75 years and not achieved respectively. Stage 3 chronic kidney disease had developed in 47% of cases, 11% of carriers, 15% of non carriers, with median age to diagnosis being 58, 86 and 81 years respectively. -- Metabolic and renal events occurred frequently and at an early age in BBS. There were no significant differences in the risk of these events comparing carriers of a BBS mutation to non carriers. Inheritance of a BBS mutation does not predispose to obesity, diabetes, hypertension or renal impairment. |
author2 |
Memorial University of Newfoundland. Faculty of Medicine |
format |
Thesis |
author |
Webb, Michael P. K., 1979- |
author_facet |
Webb, Michael P. K., 1979- |
author_sort |
Webb, Michael P. K., 1979- |
title |
Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation |
title_short |
Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation |
title_full |
Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation |
title_fullStr |
Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation |
title_full_unstemmed |
Metabolic and renal events in autosomal recessive bardet-biedl syndrome (BBS) and in first degree relatives with and without a BBS mutation |
title_sort |
metabolic and renal events in autosomal recessive bardet-biedl syndrome (bbs) and in first degree relatives with and without a bbs mutation |
publishDate |
2009 |
url |
http://collections.mun.ca/cdm/ref/collection/theses4/id/144906 |
genre |
Newfoundland studies University of Newfoundland |
genre_facet |
Newfoundland studies University of Newfoundland |
op_source |
Paper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries |
op_relation |
Electronic Theses and Dissertations (9.37 MB) -- http://collections.mun.ca/PDFs/theses/Webb_Michael.pdf a3217583 http://collections.mun.ca/cdm/ref/collection/theses4/id/144906 |
op_rights |
The author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission. |
_version_ |
1766113326965719040 |